Treacher-Collins syndrome is the name given to an inherited disorder that causes facial deformities. The condition is now often referred to as Franceschetti-Zwahlen syndrome, Berry syndrome, or dysostosis mandibulofacialis. The formations of the malformations caused by the syndrome are highly variable, but often involve the chin, eyes, ears, palate, or zygomatic bone.
What is Treacher-Collins syndrome?
Treacher Collins syndrome refers to an inherited condition that occurs in an average of one in about 50,000 newborns, making it relatively rare. It was discovered in 1900 by English physician Edward Treacher Collins. At that time, the ophthalmologist was the first to describe the combined and common occurrence and characteristic features of the syndrome and its symptoms. His work was continued in 1949 by Adolphe Franceschetti and David Klein. They eventually also introduced the specialist medical term “dysostosis mandibulofacialis”, which stands for the symptom complex (the complex of the complaints and the symptoms) of the disease. In addition to the actual Treacher-Collins syndrome, several similar gene mutations are known today, such as Elschnig syndrome, which always affects only the eyelids. Sometimes these occur together with Treacher Collins syndrome. If one parent already suffers from the syndrome, there is an increased risk that a child will also develop it.
Causes
The syndrome is a hereditary disease that is inherited in an autosomal dominant manner. This means that already one defective and mutated allele (a gene form) in the dominant hereditary part is sufficient to cause an expression of the disease characteristics. Since the information is located on one of the 22 pairs of autosomes and not on the sex chromosomes, Treacher Collins syndrome is inherited independently of sex. If, for example, one parent already suffers from the syndrome, the child has a 50 percent risk of also developing the disease. If both parents suffer from the syndrome, the risk increases to 75 to 100 percent. Here it depends on whether the parents are heterozygous or homozygous – in other words, whether identical or different alleles are present. Incidentally, the syndrome can also skip generations.
Symptoms, complaints, and signs
The symptoms and features of the syndrome can vary considerably and rarely turn out predictably or similarly, even in parents who already have the disease. Today, moreover, quite mild courses as well as life-threatening cases are known. This is because Treacher Collins syndrome not only causes deformities in the visible part of the face, but can also affect the respiratory tract or bone ducts. However, the syndrome is often characterized by bilateral symptoms. These manifest themselves, for example, in a malformation of the zygomatic bone (called Os zygomaticum), a defective formation of the mandible (called Mandibula) or the auricle (called Auricula). In addition, however, malformations such as a cleft palate, deformed eyelids, defective eye positions, visual disturbances, hearing disorders, and respiratory problems due to an obstruction of the airways can also be consequences of the syndrome.
Diagnosis and course of the disease
Diagnosis of Treacher Collins syndrome is usually made by clinical findings: after birth or else in the womb. For example, a commonly used method to diagnose the syndrome today is the OMENS classification. This assesses the severity of symptoms in relation to the orbit, mandible, ear, facial nerve and soft tissue of the face. In addition, however, to be really sure, various radiological examinations should always be performed. These can often be used to assess the severity and extent of the disease. Finally, however, genetic diagnostics performed at the molecular level can also confirm the diagnosis – and provide clarity.
Complications
In Treacher-Collins syndrome, complications emanate from any malformations. The hereditary disease can manifest itself, for example, in a defective formation of the lower jaw bone. If such a malformation is present, problems with feeding may occur. In infants, inadequate nutrition can quickly lead to deficiency symptoms.Furthermore, a malformation of the auricle may be present in the context of Treacher Collins syndrome, which may be associated with hearing disorders. Other malformations such as a cleft palate or deformed eyelids are associated with individual complications. Typical sequelae are respiratory problems, visual disturbances and dysfunction of the sense of smell, but also diseases of the bone ducts. Aesthetic deformities represent a psychological burden for most of those affected. If therapeutic counseling is not provided early on, social phobias and inferiority complexes may develop, often lasting a lifetime. Complications can also arise in the treatment of Treacher Collins syndrome. Surgical procedures always carry some risk of surgical error, which can cause various problems depending on the location of the procedure. Injuries to nerves, vessels or tissue structures are typical, which can cause sensory disturbances and functional disorders, for example. Drug treatment of young children is always associated with certain risks.
When should you see a doctor?
In Treacher Collins syndrome, the affected person is dependent on medical treatment and examination to prevent further complications or discomfort. In this regard, early diagnosis with subsequent treatment always has a positive effect on the further course of the disease and can prevent further worsening of the symptoms. A doctor should be consulted for Treacher Collins syndrome if the affected person suffers from severe deformities or malformations. These occur all over the body and have a very negative effect on the quality of life of the affected person. Vision or hearing problems may also be indicative of the syndrome and should also be evaluated by a physician. Most sufferers of Treacher Collins Syndrome also experience respiratory symptoms, so these symptoms should also be checked by a doctor. A general practitioner may be contacted for Treacher Collins syndrome. The further treatment depends strongly on the type and on the exact expression of the complaints, so that abei no general course can be given. If there is a desire to have children, genetic counseling can also be performed.
Treatment and therapy
The type and success of treatment in Treacher Collins syndrome always depend on the complexity and severity of the symptoms. Today, purely aesthetic malformations can often be treated quite well by modern plastic surgery. This is also true for numerous malformations caused by the syndrome that would affect the infant’s quality of life but do not threaten his or her life – such as a malformation of the eyelids, a mild cleft palate, or minimal malformations of the auricles. The situation is different for life-threatening manifestations of the syndrome, such as a malformation of the airway. Expressions such as these can also often be treated by surgical intervention. However, it is important here that the treatment happens as soon as possible – sometimes even in the womb. In addition, it is not uncommon for symptoms such as hearing or vision impairment, which can also be triggered by the syndrome, to need to be treated. This often requires close cooperation between the various treating specialists and specialists.
Prevention
Treacher Collins syndrome cannot be prevented. At most, it is possible to estimate in advance the level of risk that the child will develop it. And: Many manifestations and symptoms can often be treated, if this is done in time and if it is necessary. For this reason, parents suffering from the syndrome, or parents in whose families Treacher Collins Syndrome has already occurred, should definitely inform the gynecologist treating them – so that he or she can establish contact with specialists as early as possible. These will then usually accompany the pregnancy with various diagnoses and intervene when necessary: at the latest, however, after birth, in order to treat even mild manifestations of the syndrome in the best possible way and to improve the quality of life of the affected child.
Aftercare
Follow-up care for Treacher Collins syndrome depends on how severe the facial malformations are and what other symptoms are present. Part of the follow-up is always a physical examination and a discussion with the patient.During the physical examination, the course of the malformations is checked. If complications such as inflammation or sensory disturbances become apparent, further treatment is required. During the medical history, side effects and interactions of the prescribed medications are checked. In addition, open questions from the patient are clarified. If no complications occur, the patient can be discharged. However, since Treacher Collins Syndrome is a chronic disease, the individual symptoms must be treated permanently. Regular check-ups by the physician are necessary in order to be able to quickly remedy complaints that may occur in the course of the disease and to avoid serious complications. As a rule, a specialist clinic must be visited for this purpose. Routine check-ups, on the other hand, can be performed by the family doctor. However, this always depends on the severity of the disease. Depending on the symptoms, follow-up care for Treacher Collins Syndrome is provided by a general practitioner, ear specialist, internist or surgeon. In children, the pediatrician is usually also involved in the treatment.
What you can do yourself
Treacher Collins syndrome is characterized by complex malformations and physical limitations. Self-help measures are based on individual symptoms. After corrective surgery, general measures such as rest, quiet, and adherence to the doctor’s instructions apply. Any wounds or scars should be cared for in consultation with a dermatologist to minimize skin changes. Affected individuals must contact an ENT specialist as well as an ophthalmologist at an early stage so that their respective conditions can be treated. Therapy for hearing loss can be aided by wearing a hearing aid. Treacher Collins syndrome always means a psychological burden for those affected. The deformities can have a massive impact on self-esteem and cause serious mental illness. For this reason, contact with other affected persons as well as specialists who can point out treatment perspectives is one of the most important self-help measures. Patients suffering from Treacher Collins Syndrome are best advised to contact a specialist clinic or make contact with other patients on the Internet. The ACHSE e. V. association supports people with rare diseases and provides them with further tips and contact points that can be used to provide targeted support for medical therapy.
